HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138946003_138946050dup , CM000665.2:g.138946003_138946050dup | GRCh38 |
NC_000003.11:g.138664845_138664892dup , CM000665.1:g.138664845_138664892dup | GRCh37 |
NC_000003.10:g.140147535_140147582dup | NCBI36 |
NG_012454.1:g.6096_6143dup | |
NG_029796.1:g.3770_3817dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.678_725dup MANE Select | ENSP00000497217.1:p.Ala242_Ala243insAlaAlaAlaAlaAlaAlaAlaAlaG... | |
ENST00000330315.3:c.678_725dup | ENSP00000333188.3:p.Ala242_Ala243insAlaAlaAlaAlaAlaAlaAlaAlaG... | |
NM_023067.3:c.678_725dup | NP_075555.1:p.Ala242_Ala243insAlaAlaAlaAlaAlaAlaAlaAlaGlyProG... | |
NM_023067.4:c.678_725dup MANE Select | NP_075555.1:p.Ala242_Ala243insAlaAlaAlaAlaAlaAlaAlaAlaGlyProG... |